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European Journal of Human Genetics

  1. Attenuated familial adenomatous polyposis manifests as autosomal dominant late-onset colorectal cancer

    Ibrahim, A., Barnes, D. R., Dunlop, J., Barrowdale, D., Antoniou, A. C. & Berg, J. N. Nov 2014 In : European Journal of Human Genetics. 22, 11, p. 1330-1333 4 p.

    Research output: Contribution to journalArticle

  2. Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial clefts

    Garg, P., Ludwig, K. U., Böhmer, A. C., Rubini, M., Steegers-Theunissen, R., Mossey, P. A., Mangold, E. & Sharp, A. J. Jun 2014 In : European Journal of Human Genetics. 22, 6, p. 822-830 9 p.

    Research output: Contribution to journalArticle

  3. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

    Banka, S. , Veeramachaneni, R. , Reardon, W. , Howard, E. , Bunstone, S. , Ragge, N. , Parker, M. J. , Crow, Y. J. , Kerr, B. , Kingston, H. , Metcalfe, K. , Chandler, K. , Magee, A. , Stewart, F. , McConnell, V. P. M. , Donnelly, D. E. , Berland, S. , Houge, G. , Morton, J. E. , Oley, C. & 32 others Revencu, N., Park, S-M., Davies, S. J., Fry, A. E., Lynch, S. A., Gill, H., Schweiger, S., Lam, W. W. K., Tolmie, J., Mohammed, S. N., Hobson, E., Smith, A., Blyth, M., Bennett, C., Vasudevan, P. C., Garcia-Minaur, S., Henderson, A., Goodship, J., Wright, M. J., Fisher, R., Gibbons, R., Price, S. M., de Silva, D. C., Temple, I. K., Collins, A. L., Lachlan, K., Elmslie, F., McEntagart, M., Castle, B., Clayton-Smith, J., Black, G. C. & Donnai, D. Apr 2012 In : European Journal of Human Genetics. 20, 4, p. 381-388 8 p.

    Research output: Contribution to journalArticle

  4. Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

    Dunlop, E. A., Dodd, K. M., Land, S. C., Davies, P. A., Martins, N., Stuart, H., McKee, S., Kingswood, C., Saggar, A., Corderio, I., Medeira, A. M. D., Kingston, H., Sampson, J. R., Davies, D. M. & Tee, A. R. 2011 In : European Journal of Human Genetics. 19, 7, p. 789-795 7 p.

    Research output: Contribution to journalArticle

  5. Hereditary cutaneomucosal venous malformations are caused by TIE2 mutations with widely variable hyper-phosphorylating effects

    Wouters, V., Limaye, N., Uebelhoer, M., Irrthum, A., Boon, L. M., Mulliken, J. B., Enjolras, O., Baselga, E., Berg, J., Dompmartin, A., Ivarsson, S. A., Kangesu, L., Lacassie, Y., Murphy, J., Teebi, A. S., Penington, A., Rieu, P. & Vikkula, M. 1 Apr 2010 In : European Journal of Human Genetics. 18, 4, p. 414-420 7 p.

    Research output: Contribution to journalArticle

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